Speaker Bios
Anna C. Pfalzer is a Research Assistant Professor of Neurology at Vanderbilt University Medical Center and an Adjunct Assistant Professor of Neuroscience, where her research focuses on identifying early biomarkers of neurodevelopmental and neurodegenerative disorders, with a particular emphasis on rare, genetic conditions. Her early work examined cognitive and molecular changes in children at risk for Huntington's Disease, identifying plasma-based biomarkers that appear decades before clinical onset, which led to a broader interest in shared proteomic and metabolomic signatures across neurodevelopmental disorders, and she now leads biomarker discovery efforts involving multi-omics analyses across more than 35 rare conditions, collaborating closely with patient advocacy groups and pharmaceutical partners.
She recently served as Chief Scientific Officer for COMBINEDBrain, a nonprofit organization advancing rare neurodevelopmental disorder research, and has since formed her own scientific consulting group dedicated to supporting rare genetic neurodevelopmental communities.
Dr Damon Page Dr. Damon Page is a Principal Investigator at Seattle Children’s Research Institute and a Professor in the Department of Pediatrics at the University of Washington, where he leads a team investigating the genetic and cellular mechanisms of neurodevelopmental disorders, including autism and intellectual disability. He completed his graduate training at the University of Cambridge and the Medical Research Council’s Laboratory of Molecular Biology, his postdoctoral training at the Massachusetts Institute of Technology and was a faculty member and associate dean of graduate studies at The Scripps Research Institute prior to joining Seattle Children’s and UW.
His work integrates molecular cell biology, neuroimaging and animal models to identify novel therapeutic targets for neurodevelopmental disorders. In a complementary line of research, his lab uses tools for interrogating neural circuitry to study the fundamental principles governing the assembly and function of circuits underlying social behavior and cognition. Dr. Page’s ultimate goal is to translate laboratory findings into new treatments that improve quality of life for individuals and families affected by childhood brain disorders. Taking a collaborative approach, his research strives to bridge the gap between fundamental discoveries and practical applications in pediatric healthcare.
Dylan Miller, is a 3rd year PhD candidate at Johns Hopkins University studying Chemical and Biomolecular Engineering. Dylan’s research in Dr. Jeff Coller’s lab focuses on the development of mRNA Boosters, a novel therapeutic designed to increase translation of endogenous mRNAs in haploinsufficieny disorders.
Emily Amerson is a leader and advocate in the rare disease community, serving as the President of CTNNB1 Connect and Cure, where she focuses on advancing research, strengthening family engagement, and accelerating pathways toward treatment.
With a background in mathematical sciences and education, she brings a unique analytical and collaborative approach to nonprofit strategy and scientific advocacy. She is passionate about building partnerships between families, clinicians, and researchers to drive meaningful progress for individuals affected by CTNNB1 syndrome.
My studies are defining novel roles of adenomatous polyposis coli (APC) and .-catenin (.-cat) proteins as key regulators of synaptic maturation and plasticity. Human genetic studies show strong correlations between dysregulation of .-cat functions and intellectual disabilities, and APC is the major negative regulator of .-cat.
My work focuses on how up- or down-regulation of .-cat, in vivo, results in pathophysiological changes relevant to learning and memory. I am also identifying new roles for these proteins in regulating neuronal function through interactions with proteins such as the Fragile-X mental retardation protein (FMRP) as a means to regulate signal based mRNA translation at the synapse. The goal of my research is to provide insight into critical pathways as potential therapeutic targets for ameliorating the deficits associated with intellectual disability and autism.
I am also currently working on a new disease model for CTNNB1 syndrome, a monogenic disorder that results in intellectual disabilities and muscular dystonia and spasticity in children. We are testing new generation inhibitors as preclinical proof of principle that increasing beta-catenin back to an effective range will restore the cognitive and muscle deficits we observe in our mouse model. In collaborative efforts with pediatric geneticists and the Simons Foundation, I am also currently working with human IPSCs derived from CTNNB1 syndrome patients. We will differentiate the iPSCs to both neuronal and muscle cells and test the therapeutic effectiveness of the drugs in these preclinical human cell models.
Kellan Weston received her PhD from Washington University in St. Louis, where she studied gain-of-function variants in Angelman Syndrome.
Now, she works as a science officer at COMBINEDBrain, a nonprofit consortium of patient advocacy groups. In tandem, she works as part-time Science Director for CTNNB1 Connect and Cure, where she helps the CTNNB1 create a strategic plan forward for the CTNNB1 community.
Dr. Michele Jacob is a Professor in the Department of Neuroscience and Director of the Biomedical Therapeutics PhD program at Tufts University School of Medicine. Her current studies of CTNNB1 syndrome provide the first evidence of an efficacious drug treatment that provides corrective outcomes in preclinical mouse and CTNNB1 patient derived cell models. She is collaborating with medicinal chemists and strategic advisers at The Broad Institute of Harvard and MIT, NIH NCATS (National Center for Advancing Translational Sciences) and as an Oxford-Harrington Rare Disease Scholar to identify a lead drug candidate with optimal properties to advance to clinical trials.
Dr. Jacob received her Bachelor of Science degree from City College of New York, PhD at Yale University School of Medicine, trained as a postdoctoral fellow at Columbia University School of Medicine in the lab of the Nobel laureate Eric Kandel, and completed additional postdoctoral training at The University of California, San Diego. She headed an independent research lab at the Worcester Foundation for Biomedical Research prior to joining the Neuroscience faculty at Tufts.
Dr. Mohammad Moshahid Khan is an Associate Professor in the Department of Neurology at the University of Tennessee Health Science Center in Memphis, USA. His research focuses on understanding the gut-brain connection in neurological disorders, including CTNNB1 syndrome, with the goal of uncovering new insights that may ultimately improve the lives of patients and families.
His research has been supported by the NIH, Department of Defense, and private foundations, and he has authored more than 60 peer-reviewed publications.
Nicolò Pini, PhD is an Assistant Professor in the Division of Child and Adolescent Psychiatry and Developmental Sciences in the Department of Psychiatry at Columbia University Irving Medical Center and the New York State Psychiatric Institute. With training in biomedical engineering and developmental neuroscience, his work focuses on identifying early neurodevelopmental biomarkers of autism through longitudinal natural history studies in genetically characterized cohorts. His expertise lies in advanced signal processing and machine learning applied to physiological signals, with a particular emphasis on sleep physiology and brain function assessed via electroencephalography (EEG), to uncover mechanistic pathways linking early-life physiology to later autism outcomes.
Dr. Pini serves as a biomarker expert across several large-scale clinical and research initiatives, including the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) Autism Center of Excellence at Columbia University, the HEALthy Brain and Child Development (HBCD) Study, and the Environmental influences on Child Health Outcomes (ECHO) Program, where physiological signals are characterized across development, beginning in the neonatal period. He is deeply engaged with patient advocacy groups and family foundations, regularly participating in family meetings and community-facing initiatives. His work is driven by a commitment to developing scalable, low-burden approaches for physiological data collection both within and beyond traditional laboratory settings, with the goal of advancing early identification and intervention in autism.
Nina Žakelj, MD, is a Neurology Resident at the University Medical Centre Ljubljana, Slovenia. She has been collaborating with the CTNNB1 Foundation for six years and has been actively involved in clinical and research efforts focused on understanding the genetic, clinical, and biological features of CTNNB1 syndrome and advancing therapeutic development.
She is the first author of a large genotype-phenotype study of CTNNB1 syndrome, in which she conducted clinical interviews with 127 affected families, and has co-authored several additional publications addressing the genotype, phenotype, natural history, and neurobiology of CTNNB1 syndrome. She currently serves as an Investigator and Medical Team Member in the Dragonfly Natural History Study and the GAIN-CTNNB1 Clinical Trial.
Dr. Paige Ryan is a pediatric physical therapist, caregiver coach, and founder of Foundation First Physical Therapy & Coaching, based in Chelmsford, Massachusetts. She specializes in in-home, play-based, neuro-affirming PT for children with disabilities, neurodivergent profiles, and complex medical needs, with a unique focus on supporting the caregivers behind these children, not just the children themselves. Through her coaching programs, workshops, and community education efforts, Paige works to close the gap between the support families receive for their child and the support they receive for themselves. She is passionate about accessibility, inclusion, and building a world where caregivers are no longer expected to carry everything alone.
Rachel Heilmann is a residency trained, board-certified clinical pharmacy specialist with 15 plus years of experience working with complex medical patients. After her daughter passed away from NARS1 in 2021, Rachel left healthcare to pursue a fellowship at COMBINEDBrain. Since then she has build her own nonprofit for NARS1 disorder, has been the Director of research for multiple organizations, and currently has her own consulting service, rePURPOSEd Pharmacy Practice, focused on working alongside advocacy organizations to repurpose therapeutics for disorders that have no specific treatments.
Ricardo N. Ramirez is a computational biologist and genome engineering scientist with expertise in epigenetics, immunology, and gene regulation, focused on translating discovery science into precision therapies for rare diseases. Following his PhD at the University of California, Irvine and postdoctoral training at Harvard Medical School, he led genomic safety and therapeutic programs for next-generation epigenetic medicines now in the clinic.
As Chief Scientific Officer of the MED13L Foundation, Ricardo leads therapeutic development spanning gene editing, RNA-based therapies, biomarker discovery, and drug repurposing while building collaborations that unite researchers, clinicians, industry, and patient communities to accelerate treatments for rare genetic disorders.
Sunny graduated from Vanderbilt University in 2024, where she first learned about rare neurodevelopmental disorders through Dr. Terry Jo Bichell's course. Dr. Bichell subsequently invited her to join COMBINEDBrain, where she was introduced to CTNNB1 research. She recently graduated from Boston University School of Medicine with a Master of Science in Medical Sciences, where she completed her master’s thesis on CTNNB1 syndrome with guidance from Dr. Kellan Weston and is now working toward publication of her findings.
I am a recent graduate of the Rutgers University Genetic Counseling Masters program originally from Burlington Vermont. I had the opportunity to complete a disease concept model for CTNNB1 as my masters thesis
Valter Tucci, PhD, FRSB, is a Senior Principal Investigator at the Italian Institute of Technology in Genoa, where he leads the Laboratory of Genetics and Epigenetics of Behavior. His research integrates genetics, neurobiology, behavioral neuroscience, epigenetics, and sleep medicine, with particular interests in circadian rhythms, genomic imprinting, neurodevelopmental disorders, and rare diseases.
He has held research positions at MIT, Boston University, and the UK Medical Research Council, and has served as Visiting Professor at Tohoku University. A Fellow of the Royal Society of Biology, he has led numerous national and international research projects. He is also the author of several books on genetics, behavior, and sleep.
Wendy Chung is a clinical and molecular geneticist. She directs NIH-funded research in human genetics of autism, pulmonary hypertension, breast cancer, obesity, diabetes, and birth defects—including congenital diaphragmatic hernia and congenital heart disease.
Dr. Chung also leads national collaborations to identify the origins of autism and guide impactful therapies and services. Dr. Chung has identified the genetic basis of more than 60 rare diseases. She leads the GUARDIAN study to expand newborn screenings for genetic disorders and advance development of personalized therapies for children with these conditions. She is a founder of the Center for Therapeutic Genetics developing genetic treatments for rare genetic conditions. She is a national leader in the ethical, legal, and social implications of genomics.